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  3. CAMSAP1
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Fetal anomalies

Gene: CAMSAP1

Green List (high evidence)
CAMSAP1 (calmodulin regulated spectrin associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000130559
EnsemblGeneIds (GRCh37): ENSG00000130559
OMIM: 613774, Gene2Phenotype
CAMSAP1 is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Green on microcephaly panel Uk & aus. Not on Aus fetal panel. Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum (all 5), one microcephaly at 0.3y but no info on prenatal. PMID 39724270 not using as dual diagnosis
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316
OMIM
613774
Clinvar variants
Variants in CAMSAP1
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316 for gene: CAMSAP1

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: CAMSAP1 was added gene: CAMSAP1 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal